Klinische FragestellungSeltene hämatologische neoplastische Syndrome; hereditär

NGS +

• Allelic: Aplastic anemia (PRF1)
• Allelic: Erythrocytosis, somatic (SH2B3)
• Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
• Allelic: LEOPARD syndrome 1 (PTPN11)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Lymphoma, non-Hodgkin (PRF1)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Mirror movements 2 (RAD51)
• Allelic: Myelofibrosis, somatic (SH2B3)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Neurofibromatosis, type 1 (NF1)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Noonan syndrome 1 (PTPN11)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PRN)
• Allelic: Revesz syndrome (TINF2)
• Allelic: Watson syndrome (NF1)
• Allelic: Wiskott-Aldrich syndrome (WAS)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Aplastic anemia (NBN)
• Ataxia-pancytopenia syndrome (ACD)
• Ataxia-pancytopenia syndrome (SAMD9L)
• Ataxia-telangiectasia (ATM)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Autoimmune lymphoproliferative syndrome, type IA (FAS)
• BM failure syndrome, AR [panelapp] (NAF1)
• BM failure syndrome, AR [panelapp] (RPL23)
• BM failure syndrome, AR [panelapp] (RPL31)
• Bloom syndrome (BLM)
• Bone marrow failure syndrome 5 (TP53)
• Cerebroretinal microangiopathy with calcifications + cysts 2 (STN1)
• Cerebroretinal microangiopathy with calcifications and cysts (CTC1)
• Diamond Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 11 (RPL26)
• Diamond-Blackfan anemia 12 (RPL15)
• Diamond-Blackfan anemia 13 (RPS29)
• Diamond-Blackfan anemia 14 with mandibulofacial dysostosi (TSR2)
• Diamond-Blackfan anemia 16 (RPL27)
• Diamond-Blackfan anemia 3 (RPS24)
• Diamond-Blackfan anemia 4 (RPS17)
• Diamond-Blackfan anemia 5 (RPL35A)
• Diamond-Blackfan anemia 6 (RPL5)
• Diamond-Blackfan anemia 7 (RPL11)
• Diamond-Blackfan anemia 8 (RPS57)
• Diamond-Blackfan anemia 9 (RPS10)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AR (NHP2)
• Dyskeratosis congenita, AR 1 (NOP10)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, XL (DKC1)
• Dyskeratosis congenital [panelapp] (NAF1)
• Dyskeratosis congenital [panelapp] (RPL23)
• Dyskeratosis congenital [panelapp] (RPL31)
• Emberger syndrome (GATA2)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group B (FANCB)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group E (FANCE)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation group I (FANCI)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group L (FANCL)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group R (RAD51)
• Fanconi anemia, complementation group S (BRCA1)
• Fanconi anemia, complementation group T (UBE2T)
• Fanconi anemia, complementation group U (XRCC2)
• Fanconi anemia, complementation group V (MAD2L2)
• Gaucher disease, perinatal lethal + type I, II, III, IIIC (GBA)
• Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
• Hyper-IgE recurrent infection syndrome, AR (DOCK8)
• LIG4 syndrome (LIG4)
• Leukemia, acute lymphoblastic, susceptibility to, 3 (PAX5)
• Leukemia, acute myeloid (CEBPA)
• Leukemia, juvenile myelomonocytic (NF1)
• Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
• Lymphoproliferative syndrome 1 (ITK)
• Lymphoproliferative syndrome, XL, 1 (SH2D1A)
• MDS, AML [panelapp] (NAF1)
• MDS, AML [panelapp] (RPL23)
• MDS, AML [panelapp] (RPL31)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Monosomy 7 myelodysplasia + leukemia syndrome 1 (ACD)
• Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
• Myeloproliferative/lymphoproliferative neoplasms, familial [multiple types], susceptibility (DDX41)
• Neutropenia, cyclic (ELANE)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutropenia, severe congenital 3, AR (HAX1)
• Neutropenia, severe congenital, XL (WAS)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
• Oral + GI squamous cell carcinoma [panelapp] (NAF1)
• Osteosarcoma, soft tissue sarcomas (RPL23)
• Osteosarcoma, soft tissue sarcomas (RPL31)
• Platelet disorder, familial, with associated myeloid malignancy (RUNX)
• Shwachman-Diamond syndrome (SBDS)
• Thrombocythemia, somatic (SH2B3)
• Thrombocytopenia 2 (ANKD26)
• Thrombocytopenia 5 (ETV6)
• Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Thrombocytopenia, XL (WAS)
• Thrombocytopenia, XL, intermittent (WAS)
• Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
• {Dyskeratosis congenita, autosomal dominant 2 (TERT)